A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593288



Internal ID16034011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1247964..1249498hg38UCSC Ensembl
Innerchr4:1241752..1243286hg19UCSC Ensembl
Innerchr4:1231752..1233286hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8893n54
Supporting Variantsnssv987672
Samples
Known GenesCTBP1, CTBP1-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593288
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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